[Hyperinsulinism-hyperammonemia syndrome due to a de novo mutation in exon 7 (G979A) of the glutamate dehydrogenase gene with excellent response to diazoxide].

Abstract

Hyperinsulinism-hyperammonemia syndrome is characterized by recurrent and symptomatic hypoglycemias in childhood, secondary to hyperinsulinism associated with mild and asymptomatic hyperammonemia. This syndrome is caused by dominantly expressed mutations of the glutamate dehydrogenase gene (10q23.3). These mutations modify control of enzyme activity and represent the second cause of congenital hyperinsulinism of known genetic etiology. Moreover, this syndrome is the first genetic disorder due to an increase of function in an enzyme of intermediary metabolism to have been identified. We present the case of a 16-month-old boy with symptomatic recurrent hypoglycemias from the end of the first year of life, caused by a de novo mutation in exon 7 (G979A) of the GDH gene, with excellent outcome after diazoxide treatment.

• Authors: C Montero Luis, J Pozo Román, María T Muñoz Calvo, G Martos Moreno, María A Donoso, O Rubio Cabezas, J Argente Oliver
• Journal: Anales de pediatria (Barcelona, Spain : 2003) (An Pediatr (Barc)) Vol. 61 Issue 5 Pg. 433-7 (Nov 2004) ISSN: 1695-4033 [Print] Spain
• Vernacular Title: Síndrome de hiperinsulinismo-hiperamoniemia por mutación de novo en el exón 7 (G979A) del gen GLUD-1, con excelente respuesta a diazóxido.
• PMID: 15530324 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Glutamate Dehydrogenase
• Diazoxide

Topics

• Diazoxide (therapeutic use)
• Glutamate Dehydrogenase (genetics)
• Humans
• Hyperammonemia (drug therapy, genetics)
• Hyperinsulinism (drug therapy, genetics)
• Infant
• Male
• Mutation
• Syndrome